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Items: 1 to 20 of 74

1.

High-throughput detection of submicroscopic deletions and methylation status at 15q11-q13 by a photo-cross-linking oligonucleotide hybridization assay.

Peoples R, Weltman H, Van Atta R, Wang J, Wood M, Ferrante-Raimondi M, Cheng P, Huan B.

Clin Chem. 2002 Oct;48(10):1844-50.

2.
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Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C.

Biol Psychiatry. 2009 Aug 15;66(4):349-59. doi: 10.1016/j.biopsych.2009.01.025. Epub 2009 Mar 17.

PMID:
19278672
5.

Detection of the factor V Leiden mutation by a modified photo-cross-linking oligonucleotide hybridization assay.

French C, Li C, Strom C, Sun W, Van Atta R, Gonzalez B, Wood M.

Clin Chem. 2004 Feb;50(2):296-305. Epub 2003 Dec 4.

6.

Microarray-based methylation analysis using dual-color fluorescence hybridization.

Zhou D, Qiao W, Wan Y, Lu Z.

J Biochem Biophys Methods. 2006 Mar 31;66(1-3):33-43. Epub 2006 Jan 10.

PMID:
16442635
7.

[Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].

Li MR, Wang XZ, Liu XY, Yang YL, Bao XH, Zhang YH, Xiong H, Zhong N, Qin J, Wu XR, Pan H.

Zhonghua Yi Xue Za Zhi. 2008 Dec 16;88(46):3257-61. Chinese.

PMID:
19159549
8.
9.

Multiplex detection of CpG methylation using microarray combining with target-selection-padlock probe.

Shi X, Tang C, Zhou D, Zhao H, Lu Z.

Clin Chim Acta. 2010 Sep 6;411(17-18):1187-94. doi: 10.1016/j.cca.2010.03.026. Epub 2010 Mar 27.

PMID:
20347753
10.

GoldenGate assay for DNA methylation profiling.

Bibikova M, Fan JB.

Methods Mol Biol. 2009;507:149-63. doi: 10.1007/978-1-59745-522-0_12.

PMID:
18987813
11.

Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array.

Newkirk HL, Bittel DC, Butler MG.

Am J Med Genet A. 2008 Sep 15;146A(18):2346-54. doi: 10.1002/ajmg.a.32459.

PMID:
18698613
12.
13.

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.

Cai G, Edelmann L, Goldsmith JE, Cohen N, Nakamine A, Reichert JG, Hoffman EJ, Zurawiecki DM, Silverman JM, Hollander E, Soorya L, Anagnostou E, Betancur C, Buxbaum JD.

BMC Med Genomics. 2008 Oct 16;1:50. doi: 10.1186/1755-8794-1-50.

14.

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.

del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM.

Hum Mutat. 2008 Sep;29(9):1100-7. doi: 10.1002/humu.20841.

PMID:
18752307
15.

High-throughput DNA methylation profiling using universal bead arrays.

Bibikova M, Lin Z, Zhou L, Chudin E, Garcia EW, Wu B, Doucet D, Thomas NJ, Wang Y, Vollmer E, Goldmann T, Seifart C, Jiang W, Barker DL, Chee MS, Floros J, Fan JB.

Genome Res. 2006 Mar;16(3):383-93. Epub 2006 Jan 31.

16.

Detection of single clone deletions using array CGH: identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system.

Tokuyasu TA, Cotter PD, Segraves R, Harris J, Elder ME, Gonzales M, Pinkel D, Albertson DG, Rauen KA.

Am J Med Genet A. 2007 May 1;143A(9):925-32.

PMID:
17394204
17.
18.

BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.

Locke DP, Segraves R, Nicholls RD, Schwartz S, Pinkel D, Albertson DG, Eichler EE.

J Med Genet. 2004 Mar;41(3):175-82.

19.

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.

Thomas NS, Durkie M, Potts G, Sandford R, Van Zyl B, Youings S, Dennis NR, Jacobs PA.

Eur J Hum Genet. 2006 Jul;14(7):831-7. Epub 2006 Apr 12.

20.

Sequence-based, in situ detection of chromosomal abnormalities at high resolution.

Knoll JH, Rogan PK.

Am J Med Genet A. 2003 Sep 1;121A(3):245-57.

PMID:
12923866
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